Canonical Allele Identifier: CA2578677475

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106882_80106883dup , CM000668.2:g.80106882_80106883dup	GRCh38
NC_000006.11:g.80816599_80816600dup , CM000668.1:g.80816599_80816600dup	GRCh37
NC_000006.10:g.80873318_80873319dup	NCBI36
NG_009775.1:g.5256_5257dup
NG_009775.2:g.5256_5257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.189_190dup MANE Select	ENSP00000318351.5:p.Glu64GlyfsTer9
ENST00000320393.8:c.189_190dup	ENSP00000318351.5:p.Glu64GlyfsTer9
ENST00000356489.9:c.189_190dup	ENSP00000348880.5:p.Glu64GlyfsTer9
ENST00000369760.8:c.189_190dup	ENSP00000358775.4:p.Glu64GlyfsTer9
NM_000056.3:c.189_190dup	NP_000047.1:p.Glu64GlyfsTer9
NM_183050.2:c.189_190dup	NP_898871.1:p.Glu64GlyfsTer9
XM_005248756.3:c.189_190dup	XP_005248813.1:p.Glu64GlyfsTer9
XM_006715542.2:c.-15+199_-15+200dup	XP_006715605.1:n.-15+199_-15+200dup
XM_011536023.1:c.189_190dup	XP_011534325.1:p.Glu64GlyfsTer9
XM_011536024.1:c.189_190dup	XP_011534326.1:p.Glu64GlyfsTer9
XM_011536025.1:c.189_190dup	XP_011534327.1:p.Glu64GlyfsTer9
XM_011536027.1:c.189_190dup	XP_011534329.1:p.Glu64GlyfsTer9
NM_000056.4:c.189_190dup	NP_000047.1:p.Glu64GlyfsTer9
NM_001318975.1:c.-15+199_-15+200dup	NP_001305904.1:n.-15+199_-15+200dup
NM_183050.3:c.189_190dup	NP_898871.1:p.Glu64GlyfsTer9
NR_134945.1:n.273_274dup
XM_005248756.5:c.189_190dup	XP_005248813.1:p.Glu64GlyfsTer9
XM_011536023.3:c.189_190dup	XP_011534325.1:p.Glu64GlyfsTer9
XM_011536024.3:c.189_190dup	XP_011534326.1:p.Glu64GlyfsTer9
XM_011536025.3:c.189_190dup	XP_011534327.1:p.Glu64GlyfsTer9
XR_001743546.2:n.219_220dup
XR_001743547.2:n.219_220dup
XR_001743548.2:n.219_220dup
XR_001743549.2:n.219_220dup
XR_002956292.1:n.219_220dup
NM_183050.4:c.189_190dup MANE Select	NP_898871.1:p.Glu64GlyfsTer9
NR_134945.2:n.212_213dup
NM_000056.5:c.189_190dup	NP_000047.1:p.Glu64GlyfsTer9